Monica P. Rosello - Publications

Copy-Neutral Loss of Heterozygosity in Myelofibrosis: Parallel Evaluation with Optical Genome Mapping and Single-Nucleotide Polymorphism Arrays.

Journal: The Journal of molecular diagnostics : JMD

Published: September 09, 2025

Copy-Neutral Loss of Heterzygosity in Myelofibrosis: Parallel Evaluation with Optical Genome Mapping and Single-Nucleotide Polymorphism Arrays.

Journal: The Journal of molecular diagnostics : JMD

Published: September 09, 2025

Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: July 07, 2025

Reflections on schizophrenia and genetics: a response to Gama Marques and Finsterer.

Journal: Psychiatric genetics

Published: May 19, 2025

Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.

Journal: International journal of molecular sciences

Published: December 27, 2024

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Journal: Clinical genetics

Published: October 02, 2024

Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.

Journal: Genes

Published: August 30, 2024

Further evidence of the role of microRNA in schizophrenia: a case report.

Journal: Psychiatric genetics

Published: July 16, 2024

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.

Journal: Genes

Published: May 06, 2024

New variants expand the neurological phenotype of COQ7 deficiency.

Journal: Journal of inherited metabolic disease

Published: March 30, 2024

Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Journal: Pediatric rheumatology online journal

Published: January 10, 2024

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 31, 2022